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Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
Schamberg's disease, (also known as "progressive pigmentary dermatosis of Schamberg", [1] "purpura pigmentosa progressiva" (PPP), [1] and "Schamberg's purpura" [1]) is a chronic discoloration of the skin found in people of all ages, usually only affecting the feet, legs or thighs or a combination. It may occur as a single event or subsequent ...
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.
Necrolytic migratory erythema (NME) is a red, blistering rash that spreads across the skin. It particularly affects the skin around the mouth and distal extremities; but may also be found on the lower abdomen, buttocks, perineum, and groin.
sIBM causes progressive muscle weakness. [1] How sIBM affects individuals is variable, including the age of onset (which generally varies from the forties upwards) and rate of progression. Because of this variability, there is no "textbook case". [13] Common early symptoms include frequent tripping and falling and difficulty going up stairs.
The main symptoms include several kinds of skin rash along with muscle weakness in both upper arms or thighs. [8] Although dermatomyositis is closely related to polymyositis and is sometimes assumed to be a complication of that disease, most patients with dermatomyositis develop skin symptoms before any muscle involvement. [3]
A wide range of symptoms can indicate if a person has polymyalgia rheumatica. The classic symptoms include: [2] [11] Pain and stiffness (moderate to severe) in the neck, shoulders, upper arms, thighs, and hips, which inhibits activity, especially in the morning, but which usually persists to some degree throughout the day.